HSD17B7

hydroxysteroid 17-beta dehydrogenase 7, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 1:162790702-162812823

Links

ENSG00000132196 ∙ NCBI:51478 ∙ OMIM:606756 ∙ HGNC:5215 ∙ Uniprot:P56937 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HSD17B7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			30	2	2	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	30	3	3

Variants in HSD17B7

This is a list of pathogenic ClinVar variants found in the HSD17B7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-162790823-C-G		not specified	Uncertain significance (Dec 20, 2024)
1-162790826-G-C		not specified	Uncertain significance (Sep 12, 2024)
1-162790831-A-G		not specified	Uncertain significance (May 12, 2024)
1-162790832-G-C			Benign (Oct 10, 2018)
1-162792673-C-T		not specified	Uncertain significance (May 22, 2023)
1-162792683-G-C		not specified	Uncertain significance (Jan 04, 2024)
1-162792691-T-C		not specified	Uncertain significance (Nov 17, 2022)
1-162792693-G-C		not specified	Uncertain significance (Apr 21, 2022)
1-162792694-C-T		not specified	Uncertain significance (Dec 01, 2022)
1-162792757-G-C		not specified	Uncertain significance (Jun 30, 2023)
1-162792778-A-G		not specified	Uncertain significance (Jan 22, 2025)
1-162792800-T-G		not specified	Uncertain significance (Dec 04, 2023)
1-162792837-C-T		not specified	Uncertain significance (Nov 08, 2024)
1-162792847-A-G		not specified	Uncertain significance (Feb 25, 2025)
1-162792856-A-G		not specified	Uncertain significance (Jan 19, 2024)
1-162796604-A-G		not specified	Likely benign (Mar 25, 2024)
1-162796652-G-A		not specified	Uncertain significance (Mar 29, 2023)
1-162797812-C-A		not specified	Uncertain significance (Aug 23, 2021)
1-162797820-C-A		not specified	Uncertain significance (Jul 05, 2024)
1-162797824-A-G		not specified	Uncertain significance (Aug 05, 2024)
1-162797848-G-C		not specified	Uncertain significance (Nov 10, 2022)
1-162797888-A-C		not specified	Uncertain significance (Apr 20, 2023)
1-162797889-G-A			Benign (Sep 09, 2018)
1-162797915-T-C		not specified	Uncertain significance (Nov 08, 2022)
1-162799749-G-A		not specified	Uncertain significance (Jun 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSD17B7	protein_coding	protein_coding	ENST00000254521	9	22116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000665	0.726	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.588	159	181	0.877	0.00000905	2236
Missense in Polyphen		41	53.917	0.76042		653
Synonymous	-0.353	74	70.2	1.05	0.00000355	660
Loss of Function	1.12	10	14.6	0.684	6.16e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000211
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000793	0.0000791
Middle Eastern	0.000381	0.000381
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Responsible for the reduction of the keto group on the C-3 of sterols. {ECO:0000269|PubMed:12829805}.
• Pathway: Steroid hormone biosynthesis - Homo sapiens (human);Steroid biosynthesis - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Simvastatin Action Pathway;Pravastatin Action Pathway;Atorvastatin Action Pathway;Hyper-IgD syndrome;Cholesteryl ester storage disease;Lysosomal Acid Lipase Deficiency (Wolman Disease);Alendronate Action Pathway;Rosuvastatin Action Pathway;Lovastatin Action Pathway;Mevalonic aciduria;Wolman disease;Risedronate Action Pathway;Cerivastatin Action Pathway;Pamidronate Action Pathway;Fluvastatin Action Pathway;Smith-Lemli-Opitz Syndrome (SLOS);Chondrodysplasia Punctata II, X Linked Dominant (CDPX2);CHILD Syndrome;Desmosterolosis;Hypercholesterolemia;Steroid Biosynthesis;Zoledronate Action Pathway;Ibandronate Action Pathway;Androgen Receptor Network in Prostate Cancer;Steroid Biosynthesis;Metabolism of lipids;zymosterol biosynthesis;Metabolism;cholesterol biosynthesis III (via desmosterol);cholesterol biosynthesis II (via 24,25-dihydrolanosterol);superpathway of cholesterol biosynthesis;Metabolism of steroids;cholesterol biosynthesis I;Cholesterol biosynthesis;estradiol biosynthesis I;superpathway of steroid hormone biosynthesis (Consensus)

Intolerance Scores

• loftool: 0.478
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.332
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.893

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Hsd17b7
• Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; growth/size/body region phenotype; muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cholesterol biosynthetic process;estrogen biosynthetic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;integral component of membrane
• Molecular function: 3-keto sterol reductase activity;estradiol 17-beta-dehydrogenase activity